Common Variants in LRP2 and COMT Genes Affect the Susceptibility of Gout in a Chinese Population

PLoS One. 2015 Jul 6;10(7):e0131302. doi: 10.1371/journal.pone.0131302. eCollection 2015.

Abstract

Gout is a common inflammation disease resulting from an increase in serum uric acid. Nearly 70% of uric acid is excreted via the kidneys. To date, evidence for an association between genetic loci and gout is absent, equivocal or not replicated. Our study aims to test variants in two genes abundantly expressed in the kidney, LRP2 and COMT, for their association with uric acid and gout. In total, 1318 Chinese individuals were genotyped for rs2544390 in LRP2 and rs4680 in COMT. These LRP2 and COMT gene polymorphisms showed no significant effect on uric acid (P = 0.204 and 0.188, separately); however, rs2544390 in LRP2 did influence uric acid levels in individuals with BMI ≥ 25 (P = 0.009). In addition, the allele frequency distributions of the two loci showed a significant difference between gout patients and healthy controls. A missense variation in rs4680 (G > A) decreased the risk of gout (OR = 0.77, P = 0.015), whereas the T allele of rs2544390 was associated with gout pathogenesis risk (OR = 1.26, P = 0.020). The present study provides the first evidence for an association between COMT and gout. Rs2544390 in LRP2 only influenced uric acid levels in individuals with BMI ≥ 25, which might explain the discrepant results among previous studies. In addition, we are the first to identify the association between LRP2 and gout in a Chinese population and to confirm this association in Asians.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alleles
  • Asian People / genetics
  • Body Mass Index
  • Catechol O-Methyltransferase / genetics*
  • China
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Gout / blood
  • Gout / genetics*
  • Humans
  • Low Density Lipoprotein Receptor-Related Protein-2 / genetics*
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Uric Acid / blood

Substances

  • LRP2 protein, human
  • Low Density Lipoprotein Receptor-Related Protein-2
  • Uric Acid
  • COMT protein, human
  • Catechol O-Methyltransferase

Grants and funding

This research was supported by grants from the Science and Technology Committee of Shanghai Municipality (11DJ1400100), International S&T Cooperation Program of China (2013DFA30870), Ministry of Science and Technology (2011BAI09B00), and Program for 2012 Outstanding Medical Academic Leader for Hejian Zou. The computations involved in this study were supported by Fudan University High-End Computing Center.